{ "model": { "rank": 13741, "code": "thing-q847057", "model_id": "vr.tr.retinitis-pigmentosa", "name": "retinitis pigmentosa", "purpose": "Let an agent explain retinitis pigmentosa in general terms, describe inheritance and testing with attribution, route people to eye care and genetic services, and support living with vision loss without individual medical advice.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q847057/", "tier": 2, "score": 37, "payload": { "layer": "wikidata", "aliases": [ "posterior column ataxia-retinitis pigmentosa syndrome", "dystrophies primarily involving the retinal pigment epithelium", "retinitis pigmentosa 84", "retinitis pigmentosa 90", "retinitis pigmentosa 88", "retinitis pigmentosa 83", "retinitis pigmentosa 86", "retinitis pigmentosa 85", "retinitis pigmentosa 89", "retinitis pigmentosa 87", "retinitis pigmentosa 93", "retinitis pigmentosa 39", "retinitis pigmentosa 75", "retinitis pigmentosa 71", "retinitis pigmentosa 73", "retinitis pigmentosa 72", "retinitis pigmentosa 74", "retinitis pigmentosa 24", "retinitis pigmentosa 59", "retinitis pigmentosa 20", "retinitis pigmentosa 19", "retinitis pigmentosa 32", "retinitis pigmentosa 18", "retinitis pigmentosa 35", "retinitis pigmentosa 12", "retinitis pigmentosa 67", "retinitis pigmentosa 58", "retinitis pigmentosa 54", "retinitis pigmentosa 28", "retinitis pigmentosa 33", "retinitis pigmentosa 38", "retinitis pigmentosa 26", "retinitis pigmentosa 47", "retinitis pigmentosa 55", "retinitis pigmentosa 56", "retinitis pigmentosa 61", "retinitis pigmentosa 68", "retinitis pigmentosa 40", "retinitis pigmentosa 41", "retinitis pigmentosa 49" ], "aliasCount": 84, "merged": 84, "knownIn": 37, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q847057", "url": "https://www.wikidata.org/wiki/Q847057", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-11T22:38:07Z", "providers": [ "Claude" ], "breadth": "written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify", "pass": 2, "wave": 2, "engine": "claude" }, "metaModel": { "id": "THING-Q847057", "registryId": "vr.tr.retinitis-pigmentosa", "name": "retinitis pigmentosa", "version": "0.2.0-wave.2", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q847057/", "model": { "registry_id": "vr.tr.retinitis-pigmentosa", "name": "retinitis pigmentosa", "purpose": "Let an agent explain retinitis pigmentosa in general terms, describe inheritance and testing with attribution, route people to eye care and genetic services, and support living with vision loss without individual medical advice.", "definition": "A group of inherited retinal degenerations in which photoreceptor cells progressively die, causing night blindness, narrowing of the visual field and eventual loss of central vision, caused by variants in many genes with different inheritance patterns and occurring alone or in syndromes such as Usher syndrome; retinitis pigmentosa is diagnosed by eye examination and genetic testing and managed with low vision support and emerging gene and cell therapies.", "what_it_is_for": "Inherited retinal degeneration.", "affordances": [ "explain the condition and its course", "describe inheritance and testing", "route to eye and genetic services", "support living with vision loss" ], "distinguishing_features": [ "Inherited", "Progressive", "Genetically heterogeneous", "Low vision support" ], "appearance": "Not visible externally; pigment changes in the retina on examination.", "visual_identification": [ "Progressive photoreceptor loss", "Night blindness and tunnel vision", "Macular degeneration affects central vision first" ], "physical_properties": [], "families_and_kinds": [ "non-syndromic retinitis pigmentosa by gene", "syndromic forms such as Usher syndrome", "forms by inheritance pattern", "retinal pigment epithelium dystrophies (related)", "numbered subtypes such as retinitis pigmentosa 83 to 90" ], "related_models": [ { "relation": "is a kind of", "target": "retinal degeneration", "why": "category" }, { "relation": "is related to", "target": "X-linked intellectual disability", "why": "another X-linked condition group" }, { "relation": "is related to", "target": "dominance", "why": "inheritance patterns" }, { "relation": "is related to", "target": "health professional", "why": "ophthalmologists" } ], "identifiers": [], "standards_and_regulation": [ "Ophthalmology and genetic testing guidelines", "Disability and accessibility law", "Regulation of gene therapies" ], "failure_modes_and_hazards": [ "Agents interpreting genetic results", "Unproven treatments", "Delayed low vision support" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "care", "name": "Care", "description": "Assessment and services.", "rationale": "Routing.", "layers": [ { "id": "symptoms", "name": "Symptoms", "description": "Symptoms and assessment.", "findings": [ { "id": "symptoms-finding", "name": "Symptoms", "description": "Symptoms.", "questions": [ { "text": "Which symptoms, such as night blindness or narrowing vision, warrant eye examination, and how is retinitis pigmentosa diagnosed?", "kind": "provenance" }, { "text": "Is the user asking for a diagnosis, which needs an eye specialist?", "kind": "boundary" } ] } ] }, { "id": "genetics", "name": "Genetics", "description": "Genetic testing.", "findings": [ { "id": "genetics-finding", "name": "Genetics", "description": "Genetics.", "questions": [ { "text": "How do genetic testing and counselling work for retinitis pigmentosa, and what inheritance patterns exist?", "kind": "provenance" }, { "text": "Is the user asking to interpret their own results, which needs a genetics professional?", "kind": "boundary" } ] } ] } ] }, { "id": "understand", "name": "Understand", "description": "The condition.", "rationale": "General information.", "layers": [ { "id": "course", "name": "Course", "description": "Course and variation.", "findings": [ { "id": "course-finding", "name": "Course", "description": "Course.", "questions": [ { "text": "How does retinitis pigmentosa progress, and how does it vary between people and subtypes?", "kind": "provenance" }, { "text": "Which entry fits a syndromic form such as Usher syndrome?", "kind": "action" } ] } ] }, { "id": "mechanism", "name": "Mechanism", "description": "Mechanism.", "findings": [ { "id": "mechanism-finding", "name": "Mechanism", "description": "Mechanism.", "questions": [ { "text": "How do gene variants lead to photoreceptor loss, according to research?", "kind": "provenance" }, { "text": "How many genes are involved?", "kind": "provenance" } ] } ] } ] }, { "id": "live", "name": "Live", "description": "Living with vision loss.", "rationale": "Support.", "layers": [ { "id": "support", "name": "Support", "description": "Low vision support.", "findings": [ { "id": "support-finding", "name": "Support", "description": "Support.", "questions": [ { "text": "Which low vision services, aids, mobility training and organisations support people with retinitis pigmentosa?", "kind": "provenance" }, { "text": "Which rights and accommodations apply?", "kind": "provenance" } ] } ] }, { "id": "treatment", "name": "Treatment", "description": "Treatments and research.", "findings": [ { "id": "treatment-finding", "name": "Treatment", "description": "Treatments.", "questions": [ { "text": "Which treatments exist or are approved, such as gene therapy for specific variants, and what is in trials, according to reliable sources?", "kind": "provenance" }, { "text": "Which claims are unproven?", "kind": "provenance" } ] } ] } ] }, { "id": "learn", "name": "Learn", "description": "Research and teaching.", "rationale": "Context.", "layers": [ { "id": "research", "name": "Research", "description": "Research.", "findings": [ { "id": "research-finding", "name": "Research", "description": "Research.", "questions": [ { "text": "What are current research directions in retinal degeneration?", "kind": "provenance" }, { "text": "How can people participate in registries and trials?", "kind": "provenance" } ] } ] }, { "id": "teach", "name": "Teach", "description": "Teaching.", "findings": [ { "id": "teach-finding", "name": "Teach", "description": "Teaching.", "questions": [ { "text": "How can inherited retinal disease be taught in ophthalmology and genetics?", "kind": "action" }, { "text": "Which misconceptions arise?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Should each genetic subtype be a separate entry?", "How should patient organisations be localised?", "How should therapy approvals be tracked?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }, "draft": { "generator": "vr.draft.v3", "status": "draft-generated", "researched": false, "archetype": "abstract concept", "method": "Written from the archetype playbook - what this kind of thing needs beyond identity and provenance - and from the structure that recurred across 6,333 models already researched by two engines. Applied to this entry by rule. No source was read for this thing and no claim here is researched. This entry carries no facets of its own, so they were inferred from its domain - a guess about a whole domain applied to one thing.", "facetsInferred": true, "nextPass": "A researcher replaces this draft with a sourced specification. Treat every sentence below as a proposal to argue with.", "purpose": "Give an agent a durable, checkable way to recognise a retinitis pigmentosa, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain retinitis pigmentosa in general terms, describe inheritance and testing with attribution, route people to eye care and genetic services, and support living with vision loss without individual medical advice.", "characteristics": { "substance": "abstract", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "observed and measured" ], "distinguishingFeatures": [ "Names folded into this entry, which a task may need to split apart again: posterior column ataxia-retinitis pigmentosa syndrome, dystrophies primarily involving the retinal pigment epithelium, retinitis pigmentosa 84, retinitis pigmentosa 90, retinitis pigmentosa 88, retinitis pigmentosa 83, retinitis pigmentosa 86, retinitis pigmentosa 85, retinitis pigmentosa 89, retinitis pigmentosa 87, retinitis pigmentosa 93, retinitis pigmentosa 39.", "84 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 37 Wikipedia languages, which is a measure of how widely the thing is known, not of how important it is." ], "openQuestionsForResearch": [ "Which of the bundles below does a real task actually need, and which are ceremony?", "What does this thing have that the facets do not capture at all?", "Which neighbouring kind is most often confused with a retinitis pigmentosa, and on what evidence are they told apart?" ], "whatItIsMadeOf": "an abstraction with no physical instance", "physicalCharacter": [ "Does nothing on its own; everything it does, something else did to it.", "These come from the domain this entry sits in rather than from the entry itself, so treat them as a first guess about the whole domain applied to one thing." ], "whatCanBeDoneWithIt": [ "observe it, measure it, record its state" ], "howItIsRecognised": [ "Nothing to see. What is recognised is an instance of it, and which instances count is exactly what is argued about." ], "relatedModels": [ { "relation": "covers", "note": "Finer kinds folded into this entry because telling them apart needs a task that asks for it. Each is a model waiting to be split out when one does.", "targets": [ "posterior column ataxia-retinitis pigmentosa syndrome", "dystrophies primarily involving the retinal pigment epithelium", "retinitis pigmentosa 84", "retinitis pigmentosa 90", "retinitis pigmentosa 88", "retinitis pigmentosa 83", "retinitis pigmentosa 86", "retinitis pigmentosa 85", "retinitis pigmentosa 89", "retinitis pigmentosa 87", "retinitis pigmentosa 93", "retinitis pigmentosa 39" ] } ], "standing": "Described in 37 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 84 finer distinctions are held inside this entry as names rather than as separate models.", "structure": { "bundles": [ { "id": "identity-and-classification", "name": "Identity, naming and classification", "description": "How an agent tells one retinitis pigmentosa from another, and a retinitis pigmentosa from things that resemble it.", "rationale": "Recognition comes before every other claim. Without stable identity nothing else in the model can be trusted to be about the same thing twice.", "layers": [ { "id": "naming-and-identifiers", "name": "Names and identifiers", "description": "The names this thing goes by and the identifiers that survive translation and time.", "findings": [ { "id": "preferred-name-and-aliases", "name": "Preferred name, aliases and local names", "description": "Which name to use, which names mean the same thing, and which merely sound similar.", "questions": [ { "id": "preferred-name-and-aliases-q01", "text": "What identifies and describes the name of a retinitis pigmentosa, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "preferred-name-and-aliases-q02", "text": "Who or what asserted this about the name of a retinitis pigmentosa, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "preferred-name-and-aliases-q03", "text": "What may an agent decide or do once the name of a retinitis pigmentosa is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "stable-identifiers", "name": "Stable identifiers and external keys", "description": "Identifiers that keep pointing at this kind of thing across systems and languages.", "questions": [ { "id": "stable-identifiers-q01", "text": "What identifies and describes an identifier for a retinitis pigmentosa, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stable-identifiers-q02", "text": "Who or what asserted this about an identifier for a retinitis pigmentosa, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stable-identifiers-q03", "text": "What may an agent decide or do once an identifier for a retinitis pigmentosa is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "classification-and-granularity", "name": "Classification and granularity", "description": "Where a retinitis pigmentosa sits among kinds, and how finely a task needs to cut it.", "findings": [ { "id": "kind-and-parents", "name": "Kind, parents and neighbouring kinds", "description": "The classes this thing belongs to and the ones it is next to.", "questions": [ { "id": "kind-and-parents-q01", "text": "What identifies and describes the kind of a retinitis pigmentosa, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "kind-and-parents-q02", "text": "Who or what asserted this about the kind of a retinitis pigmentosa, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "kind-and-parents-q03", "text": "What may an agent decide or do once the kind of a retinitis pigmentosa is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "distinguishing-features", "name": "Distinguishing features", "description": "What separates a retinitis pigmentosa from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a retinitis pigmentosa, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "distinguishing-features-q02", "text": "Who or what asserted this about what distinguishes a retinitis pigmentosa, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "distinguishing-features-q03", "text": "What may an agent decide or do once what distinguishes a retinitis pigmentosa is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "state-and-lifecycle", "name": "State and lifecycle", "description": "The states a retinitis pigmentosa passes through and the events that move it between them.", "rationale": "Most decisions about a thing depend on what state it is in now, which is a claim with a time on it, not a property.", "layers": [ { "id": "lifecycle-stages", "name": "Lifecycle stages", "description": "From coming into existence to ceasing to be one of these.", "findings": [ { "id": "stages-and-transitions", "name": "Stages and transitions", "description": "The stages worth naming and what moves a retinitis pigmentosa between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a retinitis pigmentosa, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stages-and-transitions-q02", "text": "Who or what asserted this about the lifecycle of a retinitis pigmentosa, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stages-and-transitions-q03", "text": "What may an agent decide or do once the lifecycle of a retinitis pigmentosa is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "observations-and-status", "name": "Observations and current status", "description": "What is observed about a retinitis pigmentosa, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a retinitis pigmentosa is recorded so that it can be superseded rather than overwritten.", "questions": [ { "id": "observation-record-q01", "text": "What identifies and describes an observation of a retinitis pigmentosa, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "observation-record-q02", "text": "Who or what asserted this about an observation of a retinitis pigmentosa, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "observation-record-q03", "text": "What may an agent decide or do once an observation of a retinitis pigmentosa is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "definitions-in-contest", "name": "Definitions and who holds them", "description": "What retinitis pigmentosa is taken to mean, and by whom.", "rationale": "When a field disagrees about a concept, the disagreement is the content. A model that picks one definition silently destroys the information.", "layers": [ { "id": "competing-definitions", "name": "Competing definitions", "description": "The main readings and the traditions behind them.", "findings": [ { "id": "definition-map", "name": "Definitions and their holders", "description": "Each definition with the school or body that holds it.", "questions": [ { "id": "definition-map-q01", "text": "Which definitions of retinitis pigmentosa are in use, and which tradition or body holds each?", "kind": "definition" }, { "id": "definition-map-q02", "text": "What turns on the difference between them in practice?", "kind": "boundary" } ] } ] }, { "id": "operationalisation", "name": "Operationalisation", "description": "How it is measured or applied when it has to be.", "findings": [ { "id": "operational-record", "name": "Measures and proxies", "description": "Instruments and indicators used to stand in for it.", "questions": [ { "id": "operational-record-q01", "text": "How is retinitis pigmentosa operationalised or measured in practice, and by what instrument?", "kind": "measurement" }, { "id": "operational-record-q02", "text": "What does that operationalisation leave out, and when does that matter?", "kind": "boundary" } ] } ] } ] }, { "id": "instances-and-use", "name": "Instances, use and consequence", "description": "What counts as an instance of retinitis pigmentosa and what follows from calling something that.", "rationale": "Applying a concept is an act with consequences, so a model must say what the label licenses and what it does not.", "layers": [ { "id": "instances", "name": "What counts as an instance", "description": "Clear cases, borderline cases and non-cases.", "findings": [ { "id": "instance-tests", "name": "Tests for an instance", "description": "What would settle whether something falls under it.", "questions": [ { "id": "instance-tests-q01", "text": "What would settle whether something is an instance of retinitis pigmentosa?", "kind": "boundary" }, { "id": "instance-tests-q02", "text": "Which borderline cases are argued about, and on what grounds?", "kind": "definition" } ] } ] }, { "id": "consequence", "name": "Consequence of application", "description": "Rights, duties or decisions that follow from the label.", "findings": [ { "id": "consequence-record", "name": "What the label licenses", "description": "What an agent may do once something is classified this way.", "questions": [ { "id": "consequence-record-q01", "text": "What follows practically once something is treated as retinitis pigmentosa?", "kind": "action" }, { "id": "consequence-record-q02", "text": "What must an agent not infer from the label alone?", "kind": "action" } ] } ] } ] }, { "id": "provenance-and-evidence", "name": "Provenance, evidence and time", "description": "Where every claim about a retinitis pigmentosa came from and when it held.", "rationale": "A claim without a source and a time cannot be superseded, only overwritten, and an agent that overwrites loses the ability to explain itself.", "layers": [ { "id": "source-and-authority", "name": "Source and authority", "description": "Who said it, on what evidence, and how strongly.", "findings": [ { "id": "claim-provenance", "name": "Claim provenance and confidence", "description": "The authority behind each claim about a retinitis pigmentosa and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a retinitis pigmentosa, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "claim-provenance-q02", "text": "Who or what asserted this about a claim about a retinitis pigmentosa, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "claim-provenance-q03", "text": "What may an agent decide or do once a claim about a retinitis pigmentosa is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "time-and-versions", "name": "Time, versions and supersession", "description": "When a claim was true, when it was learnt, and what replaced it.", "findings": [ { "id": "validity-and-supersession", "name": "Validity period and supersession", "description": "How an old claim about a retinitis pigmentosa is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a retinitis pigmentosa, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "validity-and-supersession-q02", "text": "Who or what asserted this about the validity of a claim about a retinitis pigmentosa, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "validity-and-supersession-q03", "text": "What may an agent decide or do once the validity of a claim about a retinitis pigmentosa is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] } ] }, "statistics": { "bundles": 5, "layers": 10, "findings": 12, "questions": 32 } } } }